Oreana neonatal screening is a new genetic test for screening
newborns,
infants or children for treatable or manageable
conditions. The disorders
screened by Oreana have symptoms that may not be apparent at birth. However,
symptoms for these conditions can manifest quickly, pose a critical threat to
the health or future development of the infant and require urgent treatment.
With Oreana, early detection of life-altering conditions that could have a
simple yet meaningful clinical management is possible, and allows for
early,
pro-active interventions
that will benefit the infant’s health and quality of life.
WHAT DOES Oreana NEONATAL SCREENING TEST FOR?
Oreana screens for 142 genes associated with genetic conditions that meet several of the following criteria:
Can be identified early, before the onset of detrimental, often
irreversible symptoms
Can cause affected infants to degenerate very quickly without
appropriate management
Are treatable, or could be manageable via tailored diet,
supplements or medications
Have high incidence in the population
Have moderate to severe clinical phenotype, with variable
expression of clinical symptoms
Early interventions could halt the onset of symptoms or limit
their effect
Prompt identification and
timely treatment
infants could
prevent or minimize serious, life-long consequences such as:
Developmental delay
Cognitive impairment
Physical disability
Mental delay
Liver disease
Blindness
Neurological degeneration
Malnutrition
Premature death
Oreana detects Autosomal Recessive, Autosomal Dominant and X-Linked genetic
conditions of metabolic, endocrine and haemoglobin nature, as well as hearing loss
disorders, among others. For a complete list of the 142 genes tested
by Oreana, please visit www.nipd.com/oreanapanel.
Oreana tests for most conditions included in the 'Recommended Uniform Screening Panel' which is a list of
disorders selected based upon the American College of Medical Genetics (ACMG) recommendations for
newborn screening. Additional disorders were added to Oreana that were either part of the differential
diagnosis or met the criteria listed above.
A MANAGEABLE CONDITION IS IDENTIFIED IN ABOUT 1 in 300 NEWBORNS*
Oreana neonatal screening can identify infants who are affected by a manageable or treatable disease soon after birth, before the onset of symptoms. The disorders tested could have detrimental effects on normal development, even lead to death. Most of these diseases have a vast array of symptoms once they manifest, making diagnosis lengthy and complicated. With timely detection, Oreana gives you the opportunity to take informed and early decisions on the best clinical management for your patient.
Oreana can also be used to identify genetic diseases in newborns, infants or children who present with a variety of clinical symptoms.
*Data collected from Centers for Disease Control and Prevention (2012);
CDC Grand Rounds: Newborn screening and improved outcomes, and is
based on screening of 29 diseases included in core
conditions of the Recommended Uniform Screening Panel.
WHO IS Oreana
NEONATAL
SCREENING FOR?
Asymptomatic newborns and infants for
early detection
Newborns, infants or young children presenting
with a clinical phenotype, for identification of
the disease-causing variant
Oreana can benefit all newborns and infants, irrespective
of their family’s genetic history. The conditions tested by
Oreana may be inherited from carrier parents who are
unaware of their genetic status to their children, they may
have a hereditary component or no previous disease
manifestation in the family history. Oreana neonatal
screening can help in identifying and treating the affected
child early, but also with providing the family with useful
information on their genetic background and future family
planning.
WHY CHOOSE Oreana NEONATAL SCREENING?
Results are reported quickly, to accommodate for timely and effective interventions
Complements national newborn screening programs
Testing for clinically actionable and highly penetrant mutations
Superior targeted genomic analysis, targeting all coding sequences of the tested genes
Expandable panel of disorders
High precision and accuracy
High sensitivity and specificity
Non-invasive, painless and safe for the infant
WHY RECOMMEND Oreana IN
ADDITION TO NEONATAL SCREENING?
National newborn screening programs offer great advantages for
infants, their families and national health systems. However, because
they are subjected to each country's regulations, healthcare system
and available funds, implementation of changes, such as use of more
advanced technology or addition of clinically important diseases,
can take time. As a result, the number of conditions tested is vastly
different throughout Europe and the world; some countries perform
newborn screening ranging from only 2 disorders to over 35.
With Oreana neonatal screening, genetic conditions that are treatable
or manageable can be detected before appearance of clinical signs
in asymptomatic newborns. With early interventions, irreversible
damages to the infant can be limited or prevented,
benefiting their
quality of life. Additionally, accurate identification of disease-causing
variants in symptomatic newborns can signify the start of
beneficial,
therapeutic treatment.
* Data collected from Centers for Disease Control and Prevention (2012); CDC Grand Rounds: Newborn
screening and improved outcomes, and is based on screening of 29 diseases included in the core
conditions of the Recommended Uniform Screening Panel.
WHAT ARE THE BENEFITS OF EARLY DETECTION?
Prevent the onset of symptoms
Minimize the severity of symptoms
Limit irreparable health damage
Avoid a late and lengthy diagnosis
Start early interventions and clinical management
Advice on available experimental therapies or clinical trials, where appropriate
TECHNOLOGICAL
ADVANTAGES
Oreana uses a targeted genomic analysis and a
robust, validated multiengine analysis platform to
screen for clinically actionable, highly penetrant
gene mutations with high sensitivity and specificity.
TARGETED TECHNOLOGY
Oreana neonatal screening is based on a novel,
target capture enrichment technology that
has been thoroughly validated for its accuracy
and precision.
FULL COVERAGE
Oreana screens for all coding regions on the
genes tested, examining single nucleotide
variants, small insertions and deletions and copy
number variants.
NOVEL BIOINFORMATICS
Innovative bioinformatics pipelines analyze the
sequencing data produced from each sample,
increasing the sensitivity and specificity of Oreana
neonatal screening.
WHEN IS THE OPTIMAL TIME
TO PERFORM
Oreana?
Oreana neonatal screening can be performed
anytime after birth, up to early childhood. For many
of the disorders tested by Oreana, the age of diagnosis can
determine the prognosis and severity of symptoms. Since
the introduction of newborn screening programs,
earlier
detection
and starting treatment as soon as possible have
improved the life expectancy and quality of life of
affected infants.
WHAT WILL THE REPORT TELL ME?
Positive or negative results on
mutations detected
Thorough interpretation and significance
of any positive mutations detected
Variants of Unknown Significance (VUS) are not reported. Inconclusive results
may occasionally be issued.
WHAT CAN I DO AFTER Oreana?
Through Oreana neonatal screening, you can benefit the
affected infant’s health as well as the whole family. In case
of a positive result, you can:
Start proactive treatment as soon as possible,
to halt the natural progression of the disease
Look for the most applicable therapy
Refer the affected infant to specialists
Recommend carrier screening to family
members, depending on the disease
and the genetic status
Recommend genetic counselling to the family
HOW TO ADMINISTER Oreana
NEONATAL SCREENING?
RECOMMEND Oreana TO THE INFANT’S PARENTS
COLLECT A CHEEK SWAB FROM
THE INFANT
SEND THE SAMPLE TO NIPD Genetics
THE SAMPLE WILL BE ANALYZED
IN OUR LABORATORY
RESULTS WILL BE SENT TO YOU
WITHIN 2-3 WEEKS FROM SAMPLE
RECEIPT TO THE LABORATORY
NIPD Genetics - Privacy Policy
General Statement
NIPD Genetics is a leading, innovative biotechnology company that designs, develops, and provides a
broad spectrum of healthcare services to its customers through its expansive portfolio of molecular
and clinical laboratory tests in all disciplines.
At NIPD Genetics we are committed to protecting and respecting our customer’s privacy and personal
information. Personal information or personal data means any information that identifies, relates to,
describes, is capable of being associated with, or could be reasonably linked, directly or indirectly, with
a particular individual, such as name, identification number, location data, an online identifier or to
one or more factors specific to the physical, physiological, genetic, mental, economic, cultural or social
identity of that individual.
NIPD Genetics collects and processes your personal information according to the General Data
Protection Regulation (EU) 2016/679 and the Cypriot law providing for the protection of natural
persons with regards to the processing of personal data and for the free movement of such data (L.
125(I)/2018). The following principles lie at the heart of our approach to handling personal data:
Lawfulness, fairness and transparency – We collect and process personal data in a lawful
and
transparent manner and clearly communicate to our customers how their personal data will be
used.
Purpose limitation – We only use personal data for the purpose for which they have been
collected.
Data minimization – We only collect the data that is absolutely necessary in relation to
the
purposes for which they are processed.
Accuracy – We take every reasonable step to ensure that personal data collected are
accurate
and up to date.
Storage limitation – We do not keep personal data for longer than it is needed. Personal
data are
periodically reviewed and erased if they are not needed or anonymized and stored for scientific
research purposes.
Integrity and confidentiality (security) – Appropriate technical and organizational
measures are
in place to ensure that personal data are adequately protected from any unauthorised or illegal
processing and accidental loss, destruction or damage.
Accountability – We, at NIPD Genetics, are committed to compliance with all legal
requirements
and promote internal practices to achieve the highest standards for personal data privacy.
NIPD Genetics has appointed a Data Protection Officer (DPO) who is responsible for overseeing and
ensuring that personal information is collected and processed in line with these principles. The contact
details of the Data Protection Officer (DPO) can be found below:
Postal address: 31 Neas Engomis street, 2409 Engomi, Nicosia, Cyprus
Telephone number: + 357 22266888
By accessing or using our products or services, or by transmitting information to us by email or other
electronic means, you accept our policies, procedures and practices described in this Privacy Policy. If
you do not agree with our policies, procedures and practices as described, you can choose not to
access or use our products or services or not to transmit personal information to us.
We collect and process several types of personal information from and about users of our websites
and of our products and services, including:
Personal and sensitive information: some of our products and services may involve testing
of
biological samples that we or our customers use to create test reports, genotyping or sequencing
services for research or clinical purposes and the receipt, creation, or analysis of genomic or other
data derived from samples, including through our customer’s use of our software as a service
product. In receiving samples and providing our products and services, we may obtain your name
and surname, date of birth, email address, home address, telephone number, gender, ethnicity
and other health related information.
Computer, device and browsing information: as you interact with our products and services
online, including this website, we may use automatic data collection technologies to collect certain
information about your computer or device, as well as browsing actions and usage patterns. This
data may include your IP address, browser type or version.
The technologies we use for this automatic data collection may include cookies. You can control
cookies by adjusting your cookies settings.
Information about children
If you are under 18 years of age, do not register on our website or provide any information about
yourself to us. We do not provide our products or services directly to children or proactively collect
their personal information. Despite this prohibition, it is possible that we may sometimes be given
information about children while handling samples from our customers in our clinical labs, or through
use of our products and services by our customers and partners. If we become aware that we have
inadvertently collected personal information from children under the age of 18, without parental
consent, we will take the necessary steps to delete it as soon as possible in compliance with applicable
laws.
LEGAL BASIS FOR PROCESSING OF YOUR PERSONAL INFORMATION
Your personal information is collected by NIPD Genetics for the following purposes:
To provide you with our products and services, respond to your inquiries or fulfill your requests
and otherwise manage your relationship with us. The legal basis for processing is to meet the
requirements of a contract, to comply with our legal obligations and/or because we have a
legitimate interest in responding to requests for information about our products and services.
To communicate with you about content and product offerings, newsletters and event invitations
which are relevant to your interests and in line with your preferences. The legal basis for processing
is the individual’s explicit consent prior to sending the information and managing individuals
preferences.
To process and respond to complaints. The legal basis for processing is to meet a legal obligation.
To monitor and record information relating to the use of our products and services, including our
website. The legal basis for processing is our legitimate interest in order to improve our products
and services and our website for individuals.
To provide our products and services, NIPD Genetics may collect, receive and process biological
samples to isolate and sequence DNA. NIPD Genetics may then store resulting genetic information
and use genetic information to provide our products and services. In some cases, NIPD Genetics may
provide interpretations of genetic information on behalf of its customers, including healthcare
providers. This is only done pursuant to a written contract or a Sample Information Form with a
patient’s informed consent and is subject to applicable legal and ethical safeguards.
This sensitive information described above is collected by NIPD Genetics for the following purposes:
To provide support and maintenance services to customers who use our products and services –
The legal basis for processing is to meet the requirements of a contract.
To provide genotyping and sequencing services and analysis for our customers, including
healthcare providers. The legal basis of this processing is to meet the requirements of a contract
or as allowed in the Sample Information Form with a patient’s informed consent.
To conduct genotyping and sequencing services and analysis for quality control, process and
product development and improvements, and optimization in our labs to reflect quality
improvements and advances in our technology. The legal basis for processing is the patient’s
informed consent given through the Sample Information Form.
Transfer of Data
Your information, including personal data, may be transferred to - and maintained on - computers
located outside your province, country or other governmental jurisdiction where the data protection
laws may differ than those from your jurisdiction.
If you are located outside Cyprus and choose to provide information to us, please note that we transfer
the data, including personal data, to Cyprus and process it there.
Your consent to this Privacy Policy followed by your submission of such information represents your
agreement to that transfer.
NIPD Genetics will take all reasonable steps necessary to ensure that your data is treated securely and
in accordance with this Privacy Policy and no transfer of your personal information will take place to
an organization or a country unless there are adequate controls in place including the security of your
data and other personal information.
Disclosure of Data
NIPD Genetics complies with the General Data Protection Regulation and will not sell or trade your
personal information.
NIPD Genetics may disclose your personal information in the good faith that such action is necessary:
To comply with a legal obligation
To protect and defend the rights or property of NIPD Genetics
To prevent or investigate possible wrongdoing in connection with our products and services
To protect against legal liability
COOKIES AND OTHER TRACKING TECHNOLOGIES
Cookies are files with small amount of data which may include an anonymous unique identifiers.
Cookies are sent to your browser when you visit a website and stored on your device. Tracking
technologies used on the website are beacons, tags and scripts, to collect and track information and
to improve and analyze our websites.
We use cookies and similar tracking technologies to track the activity on our websites and collect
certain information. This includes information about the computer or device you are using, such as
Internet protocol (IP) address, information about the browser type or version, the pages of our
website that you visit, the time and date of your visit, the time spent on those pages, unique device
identifiers and other diagnostic data.
You can instruct your browser to refuse all cookies or to indicate when a cookie is being sent. However,
if you do not accept cookies, you may not be able to use some portions of our websites.
Examples of Cookies we may use:
Session Cookies. We use Session Cookies to operate our websites.
Preference Cookies. We use Preference Cookies to remember your preferences and various settings.
Security Cookies. We use Security Cookies for security purposes.
Visitor behavior cookies. To understand how visitors use and navigate the websites
Keyword cookies. To understand how visitors discover the websites.
ANALYTICS
We may use third-party Service Providers to monitor and analyze the use of our websites.
Google Analytics
Google Analytics is a web analytics service offered by Google that tracks and reports website traffic.
Google uses the data collected to track and monitor the use of our service. This data is shared with
other Google services. Google may use the collected data to contextualize and personalize the ads of
its own advertising network.
You can opt-out of having made your activity on the Service available to Google Analytics by installing
the Google Analytics opt-out browser add-on. The add-on prevents the Google Analytics JavaScript
(ga.js, analytics.js, and dc.js) from sharing information with Google Analytics about visits activity.
For more information on the privacy practices of Google, please visit the Google Privacy & Terms web
page
SECURITY OF DATA
We are committed to protecting the security of the information we collect, and we take reasonable
physical, technical, and administrative safeguards such as data anonymization and encryption to help
protect personal information from unauthorized or inappropriate access or use. It is your
responsibility to protect the confidentiality of your passwords, and any other access features
associated with your access or use of the website or our products and services, as well as to adhere
to any applicable Terms of Use or other contract between us and you or your organization.
PERSONAL DATA RETENTION
We may retain collected information even after you remove it from the website, our Services, or our
Products, to comply with applicable law, to resolve disputes, to enforce any rights in connection with
the website, our Services, or our Products, and to use as provided in this Privacy Policy, the Terms of
Use, or an applicable contract between us and you or your organization. How long we retain specific
personal information varies depending on the purpose for its use and we may delete or retain your
personal information in accordance with applicable law.
SERVICE PROVIDERS
We may employ third party companies and individuals to facilitate, maintain or operate our websites
(“Service Providers”), to provide the websites on our behalf, to perform service-related services or to
assist us in analyzing how our websites are used.
These third parties have access to your Personal Data only to perform these tasks on our behalf and
are obligated not to disclose or use it for any other purpose.
LINKS TO OTHER SITES
Our websites may contain links to other sites that are not operated by us. If you click on a third-party
link, you will be directed to that third party's site. We strongly advise you to review the Privacy Policy
of every site you visit.
We have no control over and assume no responsibility for the content, privacy policies or practices of
any third-party sites or services.
CHANGES TO THIS PRIVACY POLICY
This Privacy Policy may be updated from time to time. We will notify you of any changes by posting
the new Privacy Policy on this page.
We will let you know via email and/or a prominent notice on our website, prior to the change
becoming effective and update the “effective date” at the bottom of this Privacy Policy.
You are advised to review this Privacy Policy periodically for any changes. Changes to this Privacy Policy
are effective when they are posted on this page.
YOUR LEGAL RIGHTS
NIPD Genetics ensures that it can respond immediately to requests that you make for the exercise of
your legal rights in accordance with data protection laws. These rights are as follows:
The right to withdraw consent at any time – in cases where processing is based on your
consent
The right of access – at any given time you have the right to know what information about you
we hold and receive information about the processing activities we perform
The right to rectify – you have the right to correct, amend and complete personal data that is
incomplete
The right to erasure (“right to be forgotten”) – you can request that your personal information
is deleted
The right to object – you can object at any time to our processing of your personal information
The right to restriction of processing – this applies in the event:
You dispute the accuracy of your personal information and until it is verified
You oppose to the deletion of personal data and ask instead to delete the use of it
The personal information is no longer necessary for us
You object to the processing and we are considering whether our legitimate grounds
for processing prevail over the reasons you oppose to the processing
The right to data portability – at any given time you have the right to receive the personal
information we hold about you in a structured, commonly used and machine-readable format
(pdf, word etc.). You also have the right to request that these data are transferred to another
service in a safe and secure way
You also have the right to lodge a complaint at any time to the Office of the Commissioner for Personal
Data Protection.
We encourage you to contact us, should you wish to practice any of your legal rights or you have any
questions about this Privacy Policy, by sending an email to NIPD Genetics’ Data Protection Officer at
dpo@nipd.com.